title: Utility of a multiplex reverse transcriptase-polymerase chain reaction assay (HemaVision) in the evaluation of genetic abnormalities in Korean children with acute leukemia: a single institution study.
abstract: OBJECTIVE
  In children with acute leukemia, bone marrow genetic abnormalities (GA) have prognostic significance, and may be the basis for minimal residual disease monitoring. Since April 2007, we have used a multiplex reverse transcriptase-polymerase chain reaction tool (HemaVision) to detect of GA.
  
  
  METHODS
  In this study, we reviewed the results of HemaVision screening in 270 children with acute leukemia, newly diagnosed at The Catholic University of Korea from April 2007 to December 2011, and compared the results with those of fluorescence in situ hybridization (FISH), and G-band karyotyping.
  
  
  RESULTS
  Among the 270 children (153 males, 117 females), 187 acute lymphoblastic leukemia and 74 acute myeloid leukemia patients were identified. Overall, GA was detected in 230 patients (85.2%). HemaVision, FISH, and G-band karyotyping identified GA in 125 (46.3%), 126 (46.7%), and 215 patients (79.6%), respectively. TEL-AML1 (20.9%, 39/187) and AML1-ETO (27%, 20/74) were the most common GA in ALL and AML, respectively. Overall sensitivity of HemaVision was 98.4%, with false-negative results in 2 instances: 1 each for TEL-AML1 and MLL-AF4. An aggregate of diseasesspecific FISH showed 100% sensitivity in detection of GA covered by HemaVision for actual probes utilized. G-band karyotype revealed GA other than those covered by HemaVison screening in 133 patients (49.3%). Except for hyperdiplody and hypodiploidy, recurrent GA as defined by the World Health Organizationthat were not screened by HemaVision, were absent in the karyotype.
  
  
  CONCLUSIONS
  HemaVision, supported by an aggregate of FISH tests for important translocations, may allow for accurate diagnosis of GA in Korean children with acute leukemia.
authors.affiliation: Department of Pediatrics, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Hye-Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Hyun Jin
authors.initials: HJ
authors.lastname: Oh
authors.forename: Jae Wook
authors.initials: JW
authors.lastname: Lee
authors.forename: Pil-Sang
authors.initials: PS
authors.lastname: Jang
authors.forename: Nack-Gyun
authors.initials: NG
authors.lastname: Chung
authors.forename: Myungshin
authors.initials: M
authors.lastname: Kim
authors.forename: Jihyang
authors.initials: J
authors.lastname: Lim
authors.forename: Bin
authors.initials: B
authors.lastname: Cho
authors.forename: Hack-Ki
authors.initials: HK
authors.lastname: Kim
keywords: Acute leukemia; Child; Fluorescence in situ hybridization; HemaVision; Karyotype